Teaching NeuroImages: Leigh-like features expand the picture of PMPCA-related disorders

A 7-year-old boy was referred at age 24 months with failure to thrive, global psychomotor delay, and spastic-ataxic gait with bilateral Babinski sign. Last examination revealed a further psychomotor regression and low IQ. The child could not talk, sit, or walk autonomously and showed upper limb dystonia. His Spastic Paraplegia Rating Scale(1) score was 35/52.